Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia

Dopa-responsive dystonia (DRD) was first described in a Japanese family with a hereditary progressive dystonia [1]. Three hallmarks of the disease were subsequently identified – progressive dystonia with childhood or adolescent onset, a diurnal fluctuation of symptoms, and alleviation of symptoms as a result of treatment with low-dose oral levodopa [2].

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